R82C (p.Arg82Cys) variant of OTOF (Otoferlin)
R82C (p.Arg82Cys) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Autosomal recessive nonsyndromic hearing loss 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R82C (p.Arg82Cys) variant details
- p.Arg82Cys
- rs13031859
- ClinGen CA142803
- cosmic curated COSV55494
- ClinVar RCV000021048
- Likely benign
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.06
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Likely benign (not provided)
- EBI: Benign (in dbSNP:rs13031859)
- UniProt: Benign (in dbSNP:rs13031859)
- Most common in the HGDP:COLOMBIAN population (allele frequency 1)
- Structural context available
- Cited in: Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual… (PMID 12114484)
- Cited in: OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive… (PMID 16371502)